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Analysis of institutional authors

Terradas, MAuthorGonzález-Abuín, NAuthorGarcia-Mulero, SAuthorViana-Errasti, JAuthorPiulats, JmAuthorBrunet, JAuthorCapella, GAuthorValle, LCorresponding Author

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January 11, 2024
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MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes

Publicated to: EUROPEAN JOURNAL OF HUMAN GENETICS. 31 (10): 1185-1189 - 2023-10-01 31(10), DOI: 10.1038/s41431-023-01418-5

Authors:

Terradas, M; Gonzalez-Abuin, N; García-Mulero, S; Viana-Errasti, J; Aiza, G; Piulats, JM; Brunet, J; Capellá, G; Valle, L
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Affiliations

Catalan Inst Oncol, Canc Immunotherapy CIT Grp iPROCURE, Barcelona, Spain - Author
Catalan Inst Oncol, Hereditary Canc Programme, Barcelona, Spain - Author
Catalan Inst Oncol, IDIBGI, Girona, Spain - Author
Catalan Inst Oncol, Med Oncol Dept, Barcelona, Spain - Author
Catalan Inst Oncol, Oncol Data Analyt Programme ODAP, Unit Biomarkers & Susceptibil, Barcelona, Spain - Author
Ctr Invest Biomed Red Canc CIBERONC, Madrid, Spain - Author
Oncobell Programme, IDIBELL, Barcelona, Spain - Author
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Abstract

Germline mutations in MBD4, which, like MUTYH and NTHL1, encodes a glycosylase of the DNA based excision repair system, cause an autosomal recessive syndrome characterised by increased risk of acute myeloid leukaemia, gastrointestinal polyposis, colorectal cancer (CRC) and, to a lesser extent, uveal melanoma and schwannomas. To better define the phenotypic spectrum and tumour molecular features associated with biallelic MBD4-associated cancer predisposition, and study if heterozygous variants are associated with gastrointestinal tumour predisposition, we evaluated germline MBD4 status in 728 patients with CRC, polyposis, and other suggestive phenotypes (TCGA and in-house cohorts). Eight CRC patients carried rare homozygous or heterozygous germline variants in MBD4. The information gathered on mode of inheritance, variant nature, functional effect of the variant, and tumour mutational characteristics suggested that none of the patients included in the study had an MBD4-associated hereditary syndrome and that the heterozygous variants identified were not associated with the disease.
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Keywords

AdultAlleleArticleCancer patientCohort analysisColorectal cancerColorectal neoplasmsColorectal tumorDeoxyribonucleaseEndodeoxyribonucleasesExcision repairFemaleGenetic associationGenetic predispositionGenetic predisposition to diseaseGeneticsGerm lineGerm-line mutationGermline mutationGermline stem cellHeredityHeterozygosityHomozygosityHumanHuman cellHumansInheritanceMajor clinical studyMaleMbd4Mbd4 protein, humanMethyl-cpg-binding domainMutationPhenotypePolyposisScreening test

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal EUROPEAN JOURNAL OF HUMAN GENETICS due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2023, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Genetics.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2026-04-19:

  • WoS: 6
  • Scopus: 5
  • Europe PMC: 1
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Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-19:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 10.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 9 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 6.
  • The number of mentions on the social network X (formerly Twitter): 9 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
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Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (TERRADAS ILL, MARIONA) and Last Author (Valle Velasco, Laura).

the author responsible for correspondence tasks has been Valle Velasco, Laura.

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Awards linked to the item

This research was funded by the Spanish Ministry of Science and Innovation (Agencia Estatal de Investigacion), co-funded by FEDER funds a way to build Europe [SAF2016-80888-R (LV), PID2020-112595RB-I00 (LV), PID2019-111254RB-I00 (GC)]; Instituto de Salud Carlos III [CIBERONC CB16/12/00234]; Government of Catalonia [AGAUR 2021SGR01112, CERCA Programme for institutional support]; Scientific Foundation Asociacion Espanola Contra el Cancer [AECC Investigador (MT)]; Marie Sklodowska-Curie Individual Fellowship [Grant agreement No. 897064 (NG-A)].
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